Department of Haematological Pathology, School of Medicine, Sefako Makgatho Health Sciences University, Pretoria, South Africa; and, Department of Haematological Pathology, Dr George Mukhari Academic Laboratory, National Health Laboratory Service, Pretoria.
S Afr Fam Pract (2004). 2022 Oct 13;64(1):e1-e7. doi: 10.4102/safp.v64i1.5551.
Haemophilia A and B are X-linked recessive bleeding disorders resulting from a deficiency of factors VIII and IX, respectively. Early diagnosis and a comprehensive approach to management is mandatory. This study aimed to describe the profile of patients with haemophilia (PWH) managed at Dr George Mukhari Academic Hospital (DGMAH) with the view to identify potential areas to improve haemophilia care.
A cross-sectional, descriptive study that retrospectively reviewed clinical and laboratory records of PWH managed at DGMAH haemophilia treatment centre from 01 January 2003 to 31 December 2017.
Forty-four males were identified, with the majority being adults (61%). Haemophilia A patients (82%) outnumbered those with haemophilia B (~18%). Spontaneous mucocutaneous bleeding was the most frequent presenting feature followed by haemarthrosis. Disease-related complications included joint complications and life-threatening bleeds. There was a delay in diagnosis in 11% PWH. Management included episodic plasma-derived factor replacement and bypassing agents for patients with inhibitors. Only 13% of PWH were on home therapy. Prevalence of inhibitor development was 18%. There was a paucity of recorded data regarding prophylaxis, genetic counselling, psychological and physiotherapy support.
The majority of PWH were adults, and haemophilia A was more prevalent than haemophilia B. A delay in haemophilia diagnosis could be addressed by increasing the awareness of haemophilia in health facilities. Expanding home therapy and introducing prophylaxis will likely improve the quality of life in PWH. Study outputs have included compilation of diagnostic and management algorithms to optimise haemophilia care at DGMAH.
血友病 A 和 B 是 X 连锁隐性遗传性出血性疾病，分别由因子 VIII 和因子 IX 缺乏引起。早期诊断和综合管理是必要的。本研究旨在描述在乔治·穆卡里学术医院（DGMAH）管理的血友病患者（PWH）的特征，以确定改善血友病护理的潜在领域。
这是一项回顾性描述性的横断面研究，对 2003 年 1 月 1 日至 2017 年 12 月 31 日期间在 DGMAH 血友病治疗中心管理的 PWH 的临床和实验室记录进行了回顾。
共确定了 44 名男性患者，其中大多数为成年人（约 61%）。血友病 A 患者（约 82%）多于血友病 B 患者（约 18%）。自发性黏膜皮肤出血是最常见的首发症状，其次是关节积血。疾病相关并发症包括关节并发症和危及生命的出血。11%的 PWH 存在诊断延迟。治疗包括对有抑制剂的患者进行间歇性血浆源性因子替代和旁路治疗。只有 13%的 PWH 接受家庭治疗。抑制剂发展的患病率为 18%。关于预防、遗传咨询、心理和物理治疗支持，记录的数据很少。
大多数 PWH 为成年人，血友病 A 比血友病 B 更为常见。通过提高医疗机构对血友病的认识，可以解决血友病诊断的延迟问题。扩大家庭治疗并引入预防治疗可能会提高 PWH 的生活质量。研究结果包括编制了诊断和管理算法，以优化 DGMAH 的血友病护理。
